Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Rachel D. Burnside"'
Autor:
Benjamin Clifford, Jen Hauenstien, Andy Wing Chun Pang, Rachel D. Burnside, Neil Miller, Alex Hastie, Alka Chaubey
Publikováno v:
Cancer Research. 83:2227-2227
Cytogenetic analysis for hematological malignancies most often includes karyotyping, fluorescence in situ hybridization, and rarely, chromosomal microarray (CMA). While considered the gold standard, karyotyping and FISH have significant limitations i
Autor:
Rachel D. Burnside, Brynn Levy
Publikováno v:
Prenatal diagnosis. 39(3)
Microarray testing is the recommended first-tier diagnostic test for women who undergo invasive prenatal diagnostic procedures. It is well-established that microarray analysis provides information regarding copy number for changes (or copy number var
Autor:
Darrow Speyer, April Harris, Amarilis Sanchez-Valle, Rachel D. Burnside, David Z. Rose, W. Scott Burgin
Publikováno v:
Cytogenetic and Genome Research. 150:46-51
Constitutional chromoanagenesis events, which include chromoanasynthesis and chromothripsis and result in highly complex rearrangements, have been reported for only a few individuals. While rare, these phenomena have likely been underestimated in a c
Autor:
Luis Rohena, Hiba Risheg, Golder N. Wilson, Andrea Penton, Justin Schleede, Rachel D. Burnside, Huong Cabral, Krishna K. Yelavarthi
Publikováno v:
American Journal of Medical Genetics Part A. 167:695-700
Deletions in the middle portion of 11q are not as well described in the literature as terminal 11q deletions that result in Jacobsen syndrome. One confounding factor in the older literature is that the G-banding pattern of 11q13q21 is very similar to
Autor:
Rachel D. Burnside
Publikováno v:
Cytogenetic and Genome Research. 146:89-99
Chromosome 22q11.21 contains a cluster of low-copy repeats (LCRs), referred to as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in either deletion or duplication of various intervals in the region. The deletion of the
Autor:
Susan Sklower Brooks, Wendy K. Chung, Peter Papenhausen, Rachel D. Burnside, Stuart Schwartz, Sharon Molinari, Christina Botti, Lakshmi Mehta
Publikováno v:
American journal of medical genetics. Part A. 176(9)
Interstitial deletions of the distal short arm of chromosome 2 including MYCN have only been reported for a small number of individuals. Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microc
Autor:
Fady M. Mikhail, S. Lane Rutledge, Maria Descartes, Nathaniel H. Robin, Brooke Rush, Andrew J. Carroll, Jennifer Ibrahim, Rachel D. Burnside, Robin Godshalk
Publikováno v:
Genetics in Medicine. 16:92-100
The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdelet
Autor:
Peter Papenhausen, Inder K. Gadi, Mary K. Rudd, Karen Phillips, Stuart Schwartz, Justin Schleede, James Tepperberg, Romela Pasion, Rachel D. Burnside, Huong Cabral
Publikováno v:
American Journal of Obstetrics and Gynecology. 218:S58-S59
Autor:
John Pappas, Shaun D. Rodgers, David H. Harter, Rebecca E. Rosenberg, Maureen Egan, Sarah Milla, Rachel D. Burnside
Publikováno v:
Pediatrics. 131:e1996-e2001
A 7-year-old white girl presented with left hemiparesis and ischemic stroke secondary to moyamoya syndrome, a progressive cerebrovascular occlusive disorder of uncertain but likely multifactorial etiology. Past medical history revealed hearing loss a
Autor:
Fady M. Mikhail, Linda D. Cooley, Nyla A. Heerema, Rachel D. Burnside, Athena M. Cherry, Kathleen W. Rao
DISCLAIMER: These American College of Medical Genetics and Genomics standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adh
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